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1.

4p partial monosomy syndrome

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008). [from OMIM]

MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
2.

Abnormal sternal ossification

Any anomaly in the formation of the bony substance of the sternum. [from HPO]

MedGen UID:
348058
Concept ID:
C1860243
Finding

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